Carbohydrate-deficient glycoprotein syndromes: Inborn errors of protein glycosylation

Annals of Clinical Biochemistry

Volumn 36, Issue 1, 1999, Pages 20-36

  Keir, G ^a   Winchester, B G ^b   Clayton, P ^b  

^a NATIONAL HOSPITAL FOR NEUROLOGY AND NEUROSURGERY   (United Kingdom)

^b GREAT ORMOND STREET HOSPITAL   (United Kingdom)

Author keywords

Galactosaemia; N acetylglucosaminyltransferase II; Phosphomannomutase; Phosphomannose isomerase

Indexed keywords

MANNOSE PHOSPHATE ISOMERASE; N ACETYLGLUCOSAMINYLTRANSFERASE; PHOSPHOMANNOMUTASE; PLASMA PROTEIN; TRANSFERRIN;

CONGENITAL DISORDER OF GLYCOSYLATION; ELECTROPHORESIS; GALACTOSEMIA; HEREDITARY FRUCTOSE INTOLERANCE; HUMAN; ISOELECTRIC FOCUSING; PRIORITY JOURNAL; PROTEIN GLYCOSYLATION; REVIEW; TRANSFERRIN BLOOD LEVEL;

EID: 0032892646     PISSN: 00045632     EISSN: None     Source Type: Journal    
DOI: 10.1177/000456329903600103     Document Type: Review

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